Canonical Allele Identifier: CA379473752

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6637266T>A (hg19) ; chr11:g.6616035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616035T>A , CM000673.2:g.6616035T>A	GRCh38
NC_000011.9:g.6637266T>A , CM000673.1:g.6637266T>A	GRCh37
NC_000011.8:g.6593842T>A	NCBI36
NG_008653.1:g.8427A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1001A>T	ENSP00000507321.1:p.His334Leu
ENST00000299427.12:c.1115A>T MANE Select	ENSP00000299427.6:p.His372Leu
ENST00000436873.7:c.352A>T
ENST00000524924.2:n.235A>T
ENST00000533371.6:c.386A>T	ENSP00000437066.1:p.His129Leu
ENST00000642892.1:c.386A>T	ENSP00000494165.1:p.His129Leu
ENST00000643342.1:c.205A>T
ENST00000643439.1:c.*855A>T	ENSP00000495849.1:n.*855A>T
ENST00000643479.1:n.1301A>T
ENST00000643516.1:c.624A>T
ENST00000644218.1:c.926A>T	ENSP00000493574.1:p.His309Leu
ENST00000644683.1:c.*568A>T	ENSP00000494085.1:n.*568A>T
ENST00000644810.1:c.836A>T	ENSP00000495895.1:p.His279Leu
ENST00000644831.1:n.1291A>T
ENST00000644933.1:c.386A>T	ENSP00000496133.1:p.His129Leu
ENST00000645285.1:c.197A>T	ENSP00000495058.1:p.His66Leu
ENST00000645331.1:n.1878A>T
ENST00000645620.1:c.386A>T	ENSP00000493657.1:p.His129Leu
ENST00000646691.1:n.448A>T
ENST00000646777.1:n.1448A>T
ENST00000647016.1:n.1595A>T
ENST00000647152.1:c.386A>T	ENSP00000495893.1:p.His129Leu
ENST00000647209.1:c.*984A>T	ENSP00000495558.1:n.*984A>T
ENST00000647346.1:n.2135A>T
ENST00000299427.10:c.1115A>T	ENSP00000299427.6:p.His372Leu
ENST00000524924.1:n.70A>T
ENST00000533371.5:c.386A>T	ENSP00000437066.1:p.His129Leu
ENST00000611494.4:c.1115A>T	ENSP00000484546.1:p.His372Leu
NM_000391.3:c.1115A>T	NP_000382.3:p.His372Leu
NM_000391.4:c.1115A>T MANE Select	NP_000382.3:p.His372Leu